A12V (p.Ala12Val) variant of ITGB3 (Integrin beta-3)
A12V (p.Ala12Val) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- Ensembl rs1051430
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- MetaLR 0.04
- MetaSVM -0.95
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.71
- Population evidence available
- Structural context available